Gene: SOD1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR "Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene." 22475618

2012
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096

2009
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop. 19635794

2009
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases. 18951903

2009
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096

2009
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. 17653917

2007
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. 17653917

2007
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. 14506936

2003
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant. 10889018

2000
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. 10400992

1999
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999